AutismKB 2.0

View Variant Prediction


Notes:
*iFish(Wang M, Wei L, PIMD: 27527004) is a supporting vector machine (SVM) based classifier which uses gene and gene family specific attributes.
iFish utilized customized prediction cutoff for each classifier that maximizes the sum of sensitivity andspecificity.

Gene Symbol Chr Position refNT altNT transcript iFish Probability iFish Prediction SIFT Polyhen2_HDIV Polyhen2_HVAR
IGSF5 21 41137773 G A NM_001080444 0.2003 neutral 0.06 0.999 0.993
DSCAM 21 41684236 G A NM_001271534 0.9051 deleterious 0.04 0 0
ZBTB21 21 43412590 C T NM_001098402 0.7605 deleterious 0.41 0 0
UBASH3A 21 43833609 T G NM_018961 0.0053 neutral 0.02 0 0
WDR4 21 44270267 C G NM_001260475 0.0007 neutral 0 0 0
NDUFV3 21 44323370 C T NM_021075 0.4547 neutral 0.01 0.992 0.77
SIK1 21 44839867 A T NM_173354 0.9988 deleterious 0 1 0.999
SIK1 21 44840121 G A NM_173354 0.8875 deleterious 0.01 1 0.99
TRAPPC10 21 45502691 G A NM_003274 0.4875 neutral 0.05 0.025 0.02
TRPM2 21 45820197 G A NM_003307 0.9582 deleterious 0 0.999 0.772
KRTAP10-5 21 46000044 G A NM_198694 0.3197 neutral 0.26 0.745 0.446
LSS 21 47628169 C T NM_001145437 0.0266 neutral 0 0 0
PCNT 21 47754471 G A NM_006031 0.0005 neutral 0 0.975 0.072
POTEH 22 16279213 G A NM_001136213 0.0719 neutral 0 0.028 0.065
CECR1 22 17662817 C T NM_177405 0.0054 neutral 0 0 0
MICAL3 22 18387403 T C NM_001122731 0.9836 deleterious 0 1 1
TSSK2 22 19119619 C T NM_053006 0.9496 deleterious 0 0.999 0.963
DGCR14 22 19127459 T C NM_022719 0.9738 deleterious 0 1 0.998
HIRA 22 19341564 A G NM_003325 0.0113 neutral 0.65 0 0.001
SEPT5 22 19707757 G A NM_002688 0.2954 neutral 0 0.127 0.076

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Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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